Allele Registry

Canonical Allele Identifier: PA1139739600

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV001054097

RCV003307873

ClinVar Variation:

850016

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Trp43Leu	CA375373176 NM_001362177.1:c.128G>T